Article

Upregulation of a nonsense mediated decay (NMD) insensitive CFTR mRNA isoform has therapeutic potential for the treatment of 3’ CFTR PTC variants

2024-07-03

Abstract excerpt

<h4>Background</h4> Nonsense or Premature Termination Codon (PTC) mutations of the CFTR gene are pathogenic and found in ∼10% of North American people with cystic fibrosis. PTC mutations induce Nonsense-Mediated mRNA Decay (NMD), leading to a substantial (∼80-90%) reduction in full-length mRNA. This reduction is a key contributor to PTC mutation-related pathology. Various approaches to evade NMD and preserve the...

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Literature Corpus work: d08fa866-febf-5c81-a012-d1221d6f7051
DOI: 10.1101/2024.07.01.601512

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